Results 41 to 50 of about 8,804 (200)

A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.

PLoS ONE, 2013
Pompe disease is a recessively inherited and often fatal disorder caused by the deficiency of acid α-glucosidase, an enzyme encoded by the GAA gene and needed to break down glycogen in lysosomes.
Eija H Seppälä, Arnold J J Reuser, Hannes Lohi   +2 more
doaj   +1 more source

Health-Related Quality of Life and Fatigue in Children with Pompe Disease

Journal of Pediatrics: Clinical Practice
Objective: Pompe disease is an inheritable metabolic myopathy caused by the deficiency of the lysosomal enzyme acid-⍺-glucosidase. The aim of this study was to investigate self-reported and parent-reported health related quality of life (HR-QOL) and ...
Linda E. Scheffers, Karolijn Dulfer, PhD, Charlotte Lanser, Maarten Mackenbach, MD, Ans T. van der Ploeg, MD, PhD, Johanna M.P. van den Hout, MD, PhD, Linda E. van den Berg, MD, PhD   +6 more
doaj   +1 more source

Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease

MDM Policy & Practice, 2018
Background: Newborn screening is a public health program to identify conditions associated with significant morbidity or mortality that benefit from early intervention.
Lisa A. Prosser, K. K. Lam, Scott D. Grosse, Mia Casale, Alex R. Kemper,   +5 more
doaj   +1 more source

A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations

International Journal of Neonatal Screening, 2020
Pompe disease is an inherited lysosomal storage disorder caused by acid alpha-glucosidase (GAA) enzyme deficiency, resulting in muscle and neuron intralysosomal glycogen storage.
Raymond Y. Wang
doaj   +1 more source

Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease

EMBO Molecular Medicine, 2021
Pompe disease is a metabolic myopathy due to acid alpha‐glucosidase deficiency. In addition to glycogen storage, secondary dysregulation of cellular functions, such as autophagy and oxidative stress, contributes to the disease pathophysiology.
Antonietta Tarallo, Carla Damiano, Sandra Strollo, Nadia Minopoli, Alessia Indrieri, Elena Polishchuk, Francesca Zappa, Edoardo Nusco, Simona Fecarotta, Caterina Porto, Marcella Coletta, Roberta Iacono, Marco Moracci, Roman Polishchuk, Diego Luis Medina, Paola Imbimbo, Daria Maria Monti, Maria Antonietta De Matteis, Giancarlo Parenti   +18 more
doaj   +1 more source

Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results from the Taiwan Screening Program

, 2011
OBJECTIVE: Pompe disease is an autosomal recessive lysosomal storage disorder that is caused by deficient acid alpha- glucosidase activity and results in progressive, debilitating, and often life-threatening symptoms involving the musculoskeletal ...
簡穎秀;蔣書娟;李妮鍾;黃愛珠;陳俊安;吳美環;黃佩欣;蔡輔仁;陳垣崇;胡務亮, CHIEN, YIN-HSIU;CHIANG, SHU-CHUAN;LEE, NI-CHUNG;HUANG, AI-CHU;CHEN, CHUN-AN;WU, MEI-HWAN;HUANG, PEI-HSIN;TSAI, FUU-JEN;CHEN, YUAN-TSONG;HWU, WUH-LIANG   +1 more
core   +1 more source

Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease

Stem Cell Research, 2022
Pompe disease results from GAA mutations that leads to lysosomal glycogen accumulation and cardiac and skeletal muscle pathology. We have previously generated an infantile-onset Pompe disease patient-derived human-induced pluripotent stem cells (iPSCs ...
Wenjun Huang, Yafei Zhou, Jie Wang, Congshan Jiang, Yanmin Zhang, Rui Zhou   +5 more
doaj   +1 more source

Autophagy and Lysosomes in Pompe Disease [PDF]

Autophagy, 2006
In Pompe disease, a deficiency of lysosomal acid alpha-glucosidase, intralysosomal glycogen accumulates in multiple tissues, with skeletal and cardiac muscle most severely affected.(1) Complete enzyme deficiency results in rapidly progressive infantile cardiomyopathy and skeletal muscle myopathy that is fatal within the first two years of life ...
Tokiko, Fukuda, Ashley, Roberts, Meghan, Ahearn, Kristien, Zaal, Evelyn, Ralston, Paul H, Plotz, Nina, Raben   +6 more
openaire   +2 more sources

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Genetic Heterozygosity and Pseudodeficiency in the Pompe Disease Newborn Screening Pilot Program

, 2011
Pompe disease is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of lysosomal acid - glucosidase (GAA) activity. This is the first LSD in which newborn screening has been shown to improve clinical outcomes.
簡穎秀;李妮鍾;胡務亮, Labrousse, Paul; Chien, Yin-Hsiu; Pomponio, Robert J.; Keutzer, Joan; Lee, Ni-Chung; Akmaev, Viatcheslav R.; Scholl, Thomas; Hwu, Wuh-Liang   +1 more
core   +1 more source